Genomics England
GMS Panels
Panels
Genes and Entities

MYH2

myosin heavy chain 2
OMIM: 160740
PanelMode of inheritanceDetails
2 panels
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.38
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Proximal myopathy and ophthalmoplegia, OMIM:605637
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Proximal myopathy and ophthalmoplegia, OMIM:605637, Myopathy, proximal, and ophthalmoplegia, MONDO:0011577